Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 5 | 76625147 | intron variant | A/G | snv | 0.65 | 0.810 | 1.000 | 2 | 2010 | 2016 | ||||||
|
1 | 19 | 40856388 | intron variant | C/T | snv | 8.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.120 | 3 | 7114015 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 21 | 42736981 | intron variant | T/A;G | snv | 0.44 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 20 | 18726094 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 1.000 | 0.080 | 5 | 127216040 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.120 | 7 | 107701069 | intron variant | TAAGTAACTTGACATTT/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 1 | 34785300 | stop gained | C/T | snv | 8.8E-05 | 3.5E-05 | 0.020 | 1.000 | 2 | 2005 | 2017 | |||
|
28 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 0.710 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.925 | 0.120 | 13 | 20189450 | stop gained | C/G;T | snv | 2.8E-05 | 0.710 | 1.000 | 1 | 2001 | 2001 | ||||
|
6 | 0.925 | 0.160 | 15 | 72345518 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.200 | 3 | 150972520 | stop gained | G/A;T | snv | 1.2E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
3 | 1.000 | 0.080 | 11 | 2445213 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 15 | 78111266 | stop gained | G/A | snv | 6.0E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.925 | 0.160 | 2 | 169154475 | stop gained | T/A;C | snv | 0.76 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.120 | 3 | 121993614 | stop gained | C/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.120 | 13 | 20189212 | stop gained | G/A | snv | 8.4E-05 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 13 | 20223387 | stop gained | G/A | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 15 | 78109499 | stop gained | G/A | snv | 2.4E-05 | 7.7E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.925 | 0.160 | 15 | 72344139 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.120 | 2 | 26479356 | stop gained | G/A;T | snv | 3.6E-05; 2.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 19 | 53884181 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
10 | 0.776 | 0.280 | 13 | 20189443 | stop gained | C/A;T | snv | 1.3E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.200 | 10 | 53995732 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.160 | 7 | 107710192 | stop gained | T/A;C | snv | 0.700 | 0 |